Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse

door De Sandre-Giovannoli, Annachiara, Chaouch, Malika, Kozlov, Serguei, Vallat, Jean-Michel, Tazir, Meriem, Kassouri, Nadia, Szepetowski, Pierre, Hammadouche, Tarik, Vandenberghe, Antoon, Stewart, Colin L., Grid, Djamel, Lévy, Nicolas
Gepubliceerd in 2002

Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H

door Delague, Valérie , Jacquier, Arnaud , Hamadouche, Tarik , Poitelon, Yannick , Baudot, Cécile , Boccaccio, Irène , Chouery, Eliane , Chaouch, Malika , Kassouri, Nora , Jabbour, Rosette , Grid, Djamel , Mégarbané, André , Haase, Georg , Lévy, Nicolas 
Gepubliceerd in 2007